Hearing impairment related to age in Usher syndrome types 1B and 2A.

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Genetic heterogeneity of Usher syndrome type II.

This paper proposes a new reading of Petrarch’s RVF 70, an intertextual canzone (and part-cento) that ends with an explicit textual return to the poet’s own RVF 23, the so-called canzone delle metamorfosi [canzone of the metamorphoses]. The incipit of canzone 23, ‘Nel dolce tempo de la prima etade’ [In the sweet time of my first age] forms the final line of canzone 70 and is the last in a series of quotations of the incipits of earlier poems (by the pseudo-Arnaut Daniel, Cavalcanti, Dante, and Cino da Pistoia), each of which closes one of the stanzas of Petrarch’s poem. The trend has been to read RVF 70 teleologically and as a palinode, in which the poet renounces errant desire and arrives at a new mode of loving and speaking by moving beyond the limitations of the previous tradition and his own earlier poetics, including the sensually-directed eros expounded in canzone 23. Instead this paper explores what happens if we take RVF 70 as a more literal return to RVF 23, which unsettles or resists the resolution of change proposed in the poem by keeping the question of desire more open and expressing a form of poetic subjectivity that paradoxically seeks to have it both ways – to recognize a fault in desire without renouncing it and to take pleasure in repeatedly giving itself over to what harms it. In this reading, the poet’s decision to end RVF 70 with a return to the beginning of his own RVF 23 not only destabilizes the narrative of conversion on which critics usually insist, but leads the poems to reenter themselves endlessly, making repetition and deferral the blueprint of Petrarch’s poetics

Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q

Usher syndrome is a group of autosomal recessive disorders that includes retinitis pigmentosa (RP) with hearing loss. Usher syndrome type II is defined as moderate to severe hearing loss with RP. The USH2A gene at 1q41 has been isolated and characterised. In 1993, a large Usher II family affected with a mild form of RP was found to be unlinked to 1q41 markers. Subsequent linkage studies of families in our Usher series identified several type II families unlinked to USH2A and USH3 on 3q25. After a second unlinked family with many affected members and a mild retinal phenotype was discovered, a genome search using these two large families showed another Usher II locus on 5q (two point lod =( )3.1 at D5S484). To date, we have identified nine unrelated 5q linked families (maximum combined multipoint lod = 5.86) as well as three Usher II families that show no significant linkage to any known Usher loci. Haplotype analysis of 5q markers indicates that the new locus is flanked by D5S428 and D5S433. Review of ophthalmological data suggests that RP symptoms are milder in 5q linked families; the RP is often not diagnosed until patients near their third decade. Enamel hypoplasia and severe, very early onset RP were observed in two of the three unlinked families; dental anomalies have not been previously described as a feature of Usher type II.


Keywords: Usher syndrome; chromosome 5q; retinitis pigmentosa; hearing los

Genetic heterogeneity of Usher syndrome type II.

Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome 1q32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type II was genotyped using markers spanning the 1q32-1q41 region. These included D1S70 and D1S81, which are believed to flank USH2. Genotypic results and subsequent linkage analysis indicated non-linkage of this family to these markers. The A test analysis for heterogeneity with this family and 32 other Usher type II families was statistically significant at p < 0.05. Further clinical evaluation of this family was done in light of the linkage results to determine if any phenotypic characteristics would allow for clinical identification of the unlinked type. No clear phenotypic differences were observed; however, this unlinked family may represent a previously unreported subtype of Usher type II characterised by a milder form of retinitis pigmentosa and mild vestibular abnormalities. Heterogeneity of Usher syndrome type II complicates efforts to isolate and clone Usher syndrome genes using linkage analysis and limits the use of DNA markers in early detection of Usher type II

Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q.

Usher syndrome is a group of autosomal recessive disorders that includes retinitis pigmentosa (RP) with hearing loss. Usher syndrome type II is defined as moderate to severe hearing loss with RP. The USH2A gene at 1q41 has been isolated and characterised. In 1993, a large Usher II family affected with a mild form of RP was found to be unlinked to 1q41 markers. Subsequent linkage studies of families in our Usher series identified several type II families unlinked to USH2A and USH3 on 3q25. After a second unlinked family with many affected members and a mild retinal phenotype was discovered, a genome search using these two large families showed another Usher II locus on 5q (two point lod = 3.1 at D5S484). To date, we have identified nine unrelated 5q linked families (maximum combined multipoint lod = 5.86) as well as three Usher II families that show no significant linkage to any known Usher loci. Haplotype analysis of 5q markers indicates that the new locus is flanked by D5S428 and D5S433. Review of ophthalmological data suggests that RP symptoms are milder in 5q linked families; the RP is often not diagnosed until patients near their third decade. Enamel hypoplasia and severe, very early onset RP were observed in two of the three unlinked families; dental anomalies have not been previously described as a feature of Usher type II

Semen analysis in the Usher syndrome Type 2A.

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